ClinVar Miner

List of variants in gene MCPH1 reported as pathogenic

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Total variants: 49
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HGVS dbSNP gnomAD frequency
NM_024596.5(MCPH1):c.1625T>G (p.Leu542Ter) rs748011724 0.00004
NM_024596.5(MCPH1):c.1869_1870del (p.Ser623_Cys624insTer) rs587783735 0.00004
NM_024596.5(MCPH1):c.2221C>T (p.Arg741Ter) rs374596700 0.00004
NM_024596.5(MCPH1):c.322-1G>C rs201721894 0.00004
NM_024596.5(MCPH1):c.215C>T (p.Ser72Leu) rs387906961 0.00003
NM_024596.5(MCPH1):c.26dup (p.Val10fs) rs778135376 0.00001
NM_024596.5(MCPH1):c.302C>G (p.Ser101Ter) rs755862917 0.00001
NM_024596.5(MCPH1):c.74C>G (p.Ser25Ter) rs121434305 0.00001
GRCh37/hg19 8p23.1(chr8:6261036-6312712)
NC_000008.10:g.(?_6264189)_(6266911_?)del
NC_000008.10:g.(?_6264189)_(6312793_?)del
NC_000008.10:g.(?_6266780)_(6266911_?)del
NM_001363980.2(MCPH1):c.1935+25462_1935+25465del
NM_024596.5(MCPH1):c.1040C>A (p.Ser347Ter) rs1804028189
NM_024596.5(MCPH1):c.1156C>T (p.Gln386Ter)
NM_024596.5(MCPH1):c.119C>G (p.Ser40Ter)
NM_024596.5(MCPH1):c.128_129del (p.Thr42_Phe43insTer)
NM_024596.5(MCPH1):c.146dup (p.His49fs)
NM_024596.5(MCPH1):c.147C>G (p.His49Gln) rs1488084787
NM_024596.5(MCPH1):c.168C>G (p.Tyr56Ter)
NM_024596.5(MCPH1):c.22+2_22+4del rs1554471681
NM_024596.5(MCPH1):c.2404G>T (p.Gly802Ter)
NM_024596.5(MCPH1):c.2453-1G>C rs587783739
NM_024596.5(MCPH1):c.313A>T (p.Lys105Ter) rs1424203921
NM_024596.5(MCPH1):c.321del (p.Lys107fs) rs759663956
NM_024596.5(MCPH1):c.321dup (p.Arg108fs) rs759663956
NM_024596.5(MCPH1):c.322-2A>T
NM_024596.5(MCPH1):c.348del (p.Phe116fs)
NM_024596.5(MCPH1):c.364G>T (p.Glu122Ter)
NM_024596.5(MCPH1):c.382C>T (p.Gln128Ter)
NM_024596.5(MCPH1):c.427dup (p.Thr143fs) rs199422125
NM_024596.5(MCPH1):c.477del (p.Ser159_Leu160insTer)
NM_024596.5(MCPH1):c.479T>A (p.Leu160Ter)
NM_024596.5(MCPH1):c.566dup (p.Asn189fs) rs753597039
NM_024596.5(MCPH1):c.571del (p.Ser191fs)
NM_024596.5(MCPH1):c.586del (p.Gln196fs) rs1803595754
NM_024596.5(MCPH1):c.595C>T (p.Gln199Ter)
NM_024596.5(MCPH1):c.630_631del (p.Cys210_Glu211delinsTer)
NM_024596.5(MCPH1):c.634_638del (p.Ala212fs)
NM_024596.5(MCPH1):c.673G>T (p.Glu225Ter)
NM_024596.5(MCPH1):c.698C>A (p.Ser233Ter)
NM_024596.5(MCPH1):c.733G>T (p.Gly245Ter)
NM_024596.5(MCPH1):c.76_77del (p.Lys26fs)
NM_024596.5(MCPH1):c.826_829del (p.Ser276fs)
NM_024596.5(MCPH1):c.843_846del (p.His282fs)
NM_024596.5(MCPH1):c.857C>G (p.Ser286Ter)
NM_024596.5(MCPH1):c.873del (p.Phe291_Leu292insTer)
NM_024596.5(MCPH1):c.909_921del (p.Arg304fs)
NM_024596.5(MCPH1):c.94del (p.Val33fs)

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